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Cellosaurus CRICKi004-A (CVCL_C3QZ)

[Text version]
Cell line name CRICKi004-A
Synonyms iFCI008
Accession CVCL_C3QZ
Resource Identification Initiative To cite this cell line use: CRICKi004-A (RRID:CVCL_C3QZ)
Comments From: The Francis Crick Institute Limited; London; United Kingdom.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 2961; DYNC1H1; Simple; p.Arg399Gly (c.1195A>G); ClinVar=VCV000637515; Zygosity=Homozygous (PubMed=36332468).
Disease Autosomal dominant lower extremity-predominant spinal muscular atrophy-1 (NCIt: C191765)
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy (ORDO: Orphanet_209341)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3Y
Category Induced pluripotent stem cell

PubMed=36332468; DOI=10.1016/j.scr.2022.102954
Devito L.G., Cooper F., D'Angelo I., Smith J., Healy L.E.
Generation of four iPSC lines (CRICKi004-A; CRICKi005-A; CRICKi006-A, CRICKi007-A) from spinal muscle atrophy patients with lower extremity dominant (SMALED) phenotype.
Stem Cell Res. 65:102954-102954(2022)

Cell line databases/resources hPSCreg; CRICKi004-A
Biological sample resources BioSamples; SAMEA111497816
Encyclopedic resources Wikidata; Q116048787
Entry history
Entry creation15-Dec-2022
Last entry update05-Oct-2023
Version number4